Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report
Abstract Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-12-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.6706 |